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Карпухин, А. В.; Pospekhova, N. I.; Lubchenko, L. N.; Логинова, А. Н.; Khomich, E V; Budilov, A. V.; Sergeev, A S; Zakhar'ev, V. M.; Gar'kavtseva, R F; Ek, Ginter

doi:10.1023/a:1015346009037

Doklady Biological Sciences

2002

DOI: 10.1023/a:1015346009037

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А. В. Карпухин

N. I. Pospekhova

L. N. Lubchenko

et al.

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2006

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Cited by 2 publications

References 7 publications

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The prevalence of BRCA1 and BRCA2 mutations in eastern Chinese women with breast cancer

Song

et al. 2006

J Cancer Res Clin Oncol

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To investigate the prevalence of BRCA1 and BRCA2 mutations among Chinese patients, we studied 70 Shanghai cases with early onset breast cancer and affected relatives, and mutation screening was performed in the whole-gene sequence of BRCA1 and BRCA2 by polymerase chain reaction-based denaturing high-performance liquid chromatography. Six disease-causing mutations in BRCA1 (8.6%) and two in BRCA2 (2.9%) were detected, including four novel mutations that were all in the BRCA1 gene (3449insA, IVS17-1G>T, IVS21+1G>C and 5587-1del8). Additional sequence variants identified included 30 polymorphisms (18 in BRCA1 and 12 in BRCA2) and a novel mis-sense mutation of unknown significance in BRCA2 (5911G>C). The 9.5 and 2.4% patients with breast cancer diagnosed before the age of 35 were BRCA1- and BRCA2-mutation carriers, and the prevalence of BRCA1 and BRCA2 mutations in the families with two or more affected individuals were 12.1 and 3.0%, respectively. In these families, all the BRCA1 and BRCA2 mutations were detected in the families containing at least one case diagnosed under the age of 40, and in the families whose youngest patients were diagnosed before the age of 35, the prevalence of BRCA1 and BRCA2 were as high as 40 and 20%, respectively. Based on this information, we conclude that genetic testing should be performed among patients with early onset breast cancer (<40 years), especially combined with family history.

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The prevalence of BRCA1 and BRCA2 mutations in eastern Chinese women with breast cancer

Song

et al. 2006

J Cancer Res Clin Oncol

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Analysis of point mutations of the BRCA1 gene by hybridization with hydrogel microarrays

et al. 2006

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Retrotransposon L1 codes for a unique dicistronic mRNA which serves both a transposition intermediate and a template for the synthesis of two proteins of this mobile element. According to preliminary data, the translation initiation of both cistrons of L1 occurs by non-canonical mechanisms. When translating the L1 mRNA in rabbit reticulocyte lysate (RRL), a standard system routinely used by many researchers to study mechanisms of translation initiation in eukaryotes, we observed along with expected products a number of polypeptides resulted from aberrant initiation at internal AUG codons. Such products are absent on translation of L1 mRNA in vivo. Addition to the system of a cytoplasmic extract from HeLa cells resulted in disappearance of these abberant products whereas the efficiency of translation of the first cistron remained unchanged. The level of translation of the second cistron became significantly lower. This also made the picture closer to that observed in vivo. These and other experiments allowed us to clearly demonstrate that the new combined cell-free system is much more adequate to study mechanisms of translation initiation than a regular RRL.

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Untitled

Cited by 2 publications

References 7 publications

The prevalence of BRCA1 and BRCA2 mutations in eastern Chinese women with breast cancer

The prevalence of BRCA1 and BRCA2 mutations in eastern Chinese women with breast cancer

Analysis of point mutations of the BRCA1 gene by hybridization with hydrogel microarrays

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